Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesHuman G-proteins, ObgH1 and Mtg1, associate with the large mitochondrial ribosome subunit and are involved in translation and assembly of respiratory complexesHuman ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunitDistinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsMitochondrial DNA mutations in human diseaseInfantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTumtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAGMitochondrial disease in childhood: nuclear encodedEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseCryo-EM structure of the small subunit of the mammalian mitochondrial ribosomeRibosome. The complete structure of the 55S mammalian mitochondrial ribosomeInfantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.Biochemical diagnosis of mitochondrial disordersFunction of the SIRT3 mitochondrial deacetylase in cellular physiology, cancer, and neurodegenerative diseaseRibosome. The structure of the human mitochondrial ribosomeA Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex DeficienciesThe molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1Regulation of mitochondrial ribosomal protein S29 (MRPS29) expression by a 5'-upstream open reading frameHistorical perspective on mitochondrial medicineA cytoplasmic suppressor of a nuclear mutation affecting mitochondrial functions in Drosophila.The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.Gene expression in a Drosophila model of mitochondrial disease.Dystroglycan and mitochondrial ribosomal protein L34 regulate differentiation in the Drosophila eye.The in-depth evaluation of suspected mitochondrial diseaseNAD+-dependent deacetylase SIRT3 regulates mitochondrial protein synthesis by deacetylation of the ribosomal protein MRPL10.A compendium of human mitochondrial gene expression machinery with links to disease.Analysis of the functional consequences of lethal mutations in mitochondrial translational elongation factorsGlobal genetic determinants of mitochondrial DNA copy numberMitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.ERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation.Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG.Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.Cardiomyopathy is associated with ribosomal protein gene haplo-insufficiency in Drosophila melanogasterThe bidirectional promoter of two genes for the mitochondrial translational apparatus in mouse is regulated by an array of CCAAT boxes interacting with the transcription factor NF-YA Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS CapacitySpectrum of combined respiratory chain defects.Mechanism of protein biosynthesis in mammalian mitochondria.Mitochondrial Dysfunction Plus High-Sugar Diet Provokes a Metabolic Crisis That Inhibits Growth
P2860
Q21296841-9A40023A-2788-43DB-9978-A3BBE2096D20Q24315964-15D0FB62-66C0-406E-A87F-5EA45D30AF1AQ24337773-AD019165-FFE2-4329-B8E7-BBE9A2A4ADA8Q24672004-20941847-4E54-4094-B3BC-FEC8380D4888Q24676881-14B8C797-1E88-4D1C-872E-8F9BA61A652FQ24680662-E7F33EE0-11BC-49A6-A949-34A47FFCE1D7Q24684201-08A8F8E6-EBBD-494F-8624-FB6CF55C2276Q26820866-075F6344-E3FE-4C24-89C9-1F4C57287795Q26991754-E3DD3D55-59AF-4924-88C6-16D5070239D2Q27683651-10EFCC9B-AFA4-4E1F-B1D9-8E133B49FF23Q27700074-3192F4B2-34C1-4F15-BB47-9F2F54D521A7Q27930570-BBE36E5A-32B9-4902-B7E6-FB7A939069BFQ27990527-6559A795-8CE9-47AA-AFBF-B3C9A8CA96D6Q28068499-302825B6-C311-404D-8178-64B177EAB8FAQ28115987-CAA2095C-3679-4120-A00B-D4AEA0B25662Q28116753-98E94D4D-8BA5-42E1-A7F6-C85BCBFD0753Q28236069-8C134DE3-75D9-45CB-B2E0-9BDD3EC03007Q28270591-1CB96AEB-913C-4393-BBC5-F411F9E2CB6FQ28661465-50D2D85B-8A4A-4FEF-AEC5-6F658DC159D4Q30525202-7BC5CEFB-80EA-49B0-9767-9C18F48CD36CQ30567357-1BA6A695-2E8E-46B0-82EA-0A239A0AD096Q33523281-FF2AC112-D797-4086-AC81-2C53BC45E8C7Q33576956-B2D76C04-D39C-4A9E-80F8-23E4B020730CQ33608204-BCF3C2D9-695B-4BD3-8068-32FF1669CAF4Q33748116-60310F1F-9205-43EA-B20C-1789803B571FQ33915896-BD5028F0-542C-4C41-9FA1-8BA4C3E567CBQ33945710-DE3EAB10-831C-443F-AB83-5E92755FA54DQ34110008-A2731375-4E10-45C4-83BF-70DB51652606Q34112959-483639F0-D2D7-4BFA-8996-29B2A3619DD5Q34122622-3A8408CF-AA8C-41D1-9966-DB94AC965C57Q34203277-4A965DB7-24B4-49B0-92BE-579B794F6661Q34694743-9C4C27D2-27F5-4606-86D1-69E463D6AE54Q34772842-4779844F-329F-4C5C-9625-AE355C6405F1Q35214206-4E2230F8-AB47-4D94-BB90-79A42349E43DQ35542054-FAB20667-7A83-481E-8CB8-0A92A1479C01Q35646737-5874DEAE-C2BF-459C-98BA-0DB4CC2CCEB1Q35722253-0AA5735A-672E-45F0-83FF-5154033CD235Q35825509-FA94DBB9-2B6F-4F60-A5B0-6821D16B335BQ35857108-996CB9F6-EDB1-429D-A47E-A3DAAD50857EQ35904888-F05A9534-CEEB-403C-B74B-0952BA9FA17F
P2860
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
description
2004 nî lūn-bûn
@nan
2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
@ast
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
@en
Defective mitochondrial translation caused by a ribosomal protein
@nl
type
label
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
@ast
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
@en
Defective mitochondrial translation caused by a ribosomal protein
@nl
prefLabel
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
@ast
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
@en
Defective mitochondrial translation caused by a ribosomal protein
@nl
P2093
P356
P1433
P1476
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
@en
P2093
Avraham Shaag
Chaya Miller
Efrat Ben-Shalom
Naama Shabtai
Nava Shaul
Orly Elpeleg
P304
P356
10.1002/ANA.20282
P577
2004-11-01T00:00:00Z